Table 1 ATM gene variants detected in controls and breast cancer patients

7

c.378 T > A

p.D126E

Non-Synonymous

Neutral

7

c.1287-18delT

N/A

Non-coding

-

9

c.735C > T

p.V245V

Synonymous

Neutral

13

c.1744 T > C

p.F582L

Non-Synonymous

Neutral

15

c.2119 T > C

p.S707P

Non-Synonymous

Neutral

16

c.2193C > T

p.Y731Y

Synonymous

Neutral

18

c.2442C > A

p.D814E

Non-Synonymous

Neutral

19

c.2572 T > C

p.F858L

Non-Synonymous

Damaging

20

c.2685A > G

p.L895L

Synonymous

Neutral

20

c.2805G > C

p.T935T

Synonymous

Neutral

23

c.3118A > G

p.M1040V

Non-Synonymous

Neutral

24

c.3161C > G

p.P1054R

Non-Synonymous

Damaging

32

c.4578C > T

p.P1526P

Synonymous

Neutral

39

c.5557G > A

p.D1853N

Non-Synonymous

Neutral

55

c.8536 + 13insT

N/A

Non-coding

-

56

c.8653 + 30insT

N/A

Non-coding

-

62

c.9372 + 8A > C

N/A

Non-coding

-